A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177207



Internal ID20744247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59262369..59610125hg38UCSC Ensembl
chr12:59656150..60003906hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38347757
hg19347757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455777
Supporting Variants
Samples
Known GenesSLC16A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177207
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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